Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Reference Assembly: GRCh37 (105)
Position: Chr14:73659536 A>C
dbSNP ID: rs63750888
Genomic Region: Exon 7
Mutation Type: Point, Missense
Codon Change: ACT to CCT
No Available References
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- Edwards-Lee T, Wen J, Bell J, Hardy J, Chung J, Momeni P. A presenilin-1 mutation (T245P) in transmembrane domain 6 causes early onset Alzheimer's disease. Neurosci Lett. 2006 May 8;398(3):251-2. PubMed.